Objectives, Etiology, Epidemiology, Patho Physiology, Diagnosis, Differential Diagnosis, Treatment/Management, Prognosis and Complications of Glycogen Storage Disease Type II or Pompes Disease

Pompe disease, also known as glycogen storage disease type II, is an uncommon hereditary condition caused by an acid α-glucosidase (GAA) deficiency. This deficiency results in impaired glycogen breakdown within lysosomes, primarily influencing muscular tissue. The disease is inherited in an autosomal recessive pattern and presents in 2 main phenotypes: infantile-onset Pompe disease (IOPD) and late-onset Pompe disease (LOPD). IOPD is the more severe form, characterized within the first months of life along with hypotonia, hypertrophic cardiomyopathy, respiratory failure, and developmental delays, frequently resulting in early mortality without treatment. LOPD, which emerges in childhood or adulthood, advances more slowly, along with symptoms namely proximal muscle weakness and respiratory insufficiency because of diaphragm involvement, while cardiac issues are rare. Diagnosis relies on determining decreased GAA enzyme activity, genetic testing, and estimating cross-reactive immunologic material status. Early determination, especially via newborn screening, and timely treatment initiation are critical regarding promotion of outcomes. This activity for healthcare professionals is designed to increase the learner's competence in identifying the clinical features of glycogen storage disease type II, executing the suggested evaluation, and implementing an appropriate interprofessional management approach to promote patient outcomes.